congenital fiber type disproportion

Preferred Label : congenital fiber type disproportion;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0335641;

UMLS CUI

C0546264;

CISMeF manual mappings
- congenital fiber type disproportion myopathy [Disease (Nov.)]
Currated CISMeF NLP mapping
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fiber type disproportion myopathy [PASCAL descriptor]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy 4a, autosomal dominant [OMIM Phenotype]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- congenital fiber type disproportion myopathy [SNOMED Notion]
- congenital fiber-type disproportion [DO Concept]
Related record
- myopathies, structural, congenital [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy 4a, autosomal dominant [OMIM Phenotype]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- congenital fiber type disproportion myopathy [SNOMED Notion]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]